HGNC Approved Gene Symbol: ZNF214
Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38) : 11:6,997,085-7,020,346 (from NCBI)
By sequence analysis of 73 kb containing Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2; see 130650), followed by screening a cDNA library, Alders et al. (2000) isolated cDNAs encoding 2 zinc finger genes (ZNFs; see 603971), ZNF214 and ZNF215 (605016). ZNF214 contains 12 zinc fingers and an N-terminal KRABA domain. BWSCR2 is defined by 2 BWS breakpoints. Alders et al. (2000) demonstrated that 2 of the 5 alternatively spliced ZNF215 transcripts are disrupted by both BWSCR2 breakpoints. Parts of the 3-prime end of these splice forms are transcribed from the antisense strands of ZNF214. Alders et al. (2000) showed that the ZNF215 gene is imprinted in a tissue-specific manner, whereas ZNF214 is not imprinted. These data supported a role for ZNF215, and possibly for ZNF214, in the etiology of BWS.
Alders et al. (2000) identified the ZNF214 gene within BWSCR2 on chromosome 11p15.5. BWSCR2 is located 5 Mb proximal to BWSCR1, which in turn is located 200 to 300 kb proximal to the IGF2 gene (147470) (Redeker et al., 1994).
Alders, M., Ryan, A., Hodges, M., Bliek, J., Feinberg, A. P., Privitera, O., Westerveld, A., Little, P. F. R., Mannens, M. Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome. Am. J. Hum. Genet. 66: 1473-1484, 2000. [PubMed: 10762538] [Full Text: https://doi.org/10.1086/302892]
Redeker, E., Hoovers, J. M., Alders, M., van Moorsel, C. J., Ivens, A. C., Gregory, S., Kalikin, L., Bliek, J., de Galan, L., van den Bogaard, R., Visser, J., van der Voort, R., Feinberg, A. P., Little, P. F. R., Westerveld, A., Mannens, M. An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. Genomics 21: 538-550, 1994. [PubMed: 7959730] [Full Text: https://doi.org/10.1006/geno.1994.1312]